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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:atrial standstill 2
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Accession:DOID:0080663 term browser browse the term
Definition:A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and has_material_basis_in homozygous mutation in the NPPA gene on chromosome 1p36. (DO)
Synonyms:exact_synonym: ATRST2
 broad_synonym: NPPA-RELATED CONDITION
 primary_id: OMIM:615745


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atrial standstill 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nppa natriuretic peptide A ISO ClinVar Annotator: match by term: Atrial standstill 2 | ClinVar Annotator: match by term: NPPA-related condition OMIM
ClinVar		 PMID:6225642 PMID:23275345 PMID:25741868 PMID:28492532 NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 0
      cardiovascular system disease 5412
        heart disease 3329
          heart conduction disease 400
            atrial standstill 2 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                atrial standstill 2 1
paths to the root